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  • Title: Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency.
    Author: Shapiro JM, Schaffner F, Tallan HH, Gaull GE.
    Journal: Pediatr Res; 1980 May; 14(5):735-9. PubMed ID: 7383749.
    Abstract:
    Deficiency of hepatic ornithine transcarbamylase (EC 2.1.3.3) activity in a 17-month-old female patient is described. Enzyme activity was 11% of the mean control value. Electron microscopic examination of the liver specimen, taken by percutaneous needle biopsy, revealed striking abnormalities of the mitochondria: bud-like projections, sausage-link appearance, elongation with short cristae, or the presence of parallel arrays of tubules. The abnormalities do not resemble those seen in Reye's syndrome.
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